Variant report

Variant	rs9315693
Chromosome Location	chr13:40081111-40081112
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12584207	0.99[ASN][1000 genomes]
rs17060071	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs61303672	0.93[ASN][1000 genomes]
rs61355986	0.98[ASN][1000 genomes]
rs73175160	0.96[ASN][1000 genomes]
rs73175166	0.98[ASN][1000 genomes]
rs73175169	0.91[ASN][1000 genomes]
rs927513	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs9576825	0.97[ASN][1000 genomes]
rs9576827	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9576828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	esv2757529	chr13:40040036-40090742	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759933	chr13:40040036-40090742	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40064800-40081200	Weak transcription	HSMMtube	muscle
2	chr13:40073000-40081200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:40073800-40081200	Weak transcription	Esophagus	oesophagus
4	chr13:40073800-40084200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr13:40074200-40094400	Weak transcription	Adipose Nuclei	Adipose
6	chr13:40076400-40081200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr13:40076400-40081200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:40076400-40081200	Weak transcription	Colon Smooth Muscle	Colon
9	chr13:40076400-40081200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr13:40076400-40081400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr13:40076400-40084000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr13:40076400-40084000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr13:40076400-40089000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr13:40076400-40096000	Weak transcription	Lung	lung
15	chr13:40076600-40081200	Weak transcription	Fetal Muscle Leg	muscle
16	chr13:40077400-40081200	Weak transcription	Ovary	ovary
17	chr13:40077400-40088400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:40077400-40088400	Weak transcription	Right Atrium	heart
19	chr13:40077600-40088400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:40077600-40101400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr13:40078800-40081800	Enhancers	Fetal Heart	heart
22	chr13:40079800-40081600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr13:40080000-40090400	Weak transcription	Psoas Muscle	Psoas
24	chr13:40080400-40081200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr13:40080400-40081400	Enhancers	Aorta	Aorta
26	chr13:40080400-40081600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr13:40080400-40081600	Enhancers	Left Ventricle	heart
28	chr13:40080400-40081600	Enhancers	NHLF	lung
29	chr13:40080600-40081800	Enhancers	Right Ventricle	heart
30	chr13:40080600-40082000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:40080800-40081200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr13:40080800-40081400	Enhancers	Fetal Brain Female	brain
33	chr13:40080800-40081600	Enhancers	Fetal Lung	lung
34	chr13:40080800-40081600	Flanking Active TSS	HMEC	breast
35	chr13:40080800-40081800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr13:40080800-40081800	Flanking Active TSS	NHEK	skin
37	chr13:40080800-40088200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr13:40081000-40081400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr13:40081000-40081400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr13:40081000-40081400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr13:40081000-40081400	Enhancers	Fetal Brain Male	brain
42	chr13:40081000-40081600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr13:40081000-40081600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr13:40081000-40081600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr13:40081000-40081600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr13:40081000-40081600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr13:40081000-40081600	Enhancers	Rectal Smooth Muscle	rectum
48	chr13:40081000-40081800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr13:40081000-40081800	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links